Linked Data
dbSNP Id:
rs782371137
ExAC:
2:71058877 C / T
gnomAD v2:
2-71058877-C-T
gnomAD v4:
2-70831746-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70831746C>T , CM000664.2:g.70831746C>T | GRCh38 |
| NC_000002.11:g.71058877C>T , CM000664.1:g.71058877C>T | GRCh37 |
| NC_000002.10:g.70912385C>T | NCBI36 |
| NG_033914.1:g.9078G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000410009.5:c.791G>A MANE Select | ENSP00000386378.3:p.Trp264Ter | |
| ENST00000410009.4:c.791G>A | ENSP00000386378.3:p.Trp264Ter | |
| NM_015717.4:c.791G>A | NP_056532.4:p.Trp264Ter | |
| XM_011532874.1:c.791G>A | XP_011531176.1:p.Trp264Ter | |
| XM_011532875.1:c.791G>A | XP_011531177.1:p.Trp264Ter | |
| XM_011532876.1:c.791G>A | XP_011531178.1:p.Trp264Ter | |
| XM_011532875.2:c.791G>A | XP_011531177.1:p.Trp264Ter | |
| XM_011532876.2:c.791G>A | XP_011531178.1:p.Trp264Ter | |
| NM_015717.5:c.791G>A MANE Select | NP_056532.4:p.Trp264Ter |